Cincinnati Children’s Partners with FDNA to Help Children with PACS1 Syndrome

Collaboration to Help Pediatric Patients Globally with Facial Analysis

Tuesday, September 26, 2017

Today, Cincinnati Children’s Hospital Medical Center announced the results of its new collaboration with Boston-based FDNA to accelerate the identification of PACS1 Syndrome in affected patients.

PACS1 is an extremely rare genetic disease with roughly 30 confirmed cases globally. It results in mobility, motor and cognitive delays and disabilities. Through the collaboration and collection of syndrome data, Face2Gene can now recognize and detect associations between PACS1-related facial characteristics and other phenotypes and genes.

“According to recent studies approximately one-third of all patients admitted to children’s hospitals have genetic disorders. Many of these are quite rare and traditionally can only be diagnosed when recognized by an astute clinician,” said Robert Hopkin, MD, in the Division of Human Genetics at Cincinnati Children’s. “PACS1 is typically confirmed using genetic testing, and now Face2Gene can help clinicians recognize the PACS1 phenotype earlier—especially where genetic testing is unavailable.”

For the collaboration, Cincinnati Children’s worked together with FDNA to analyze facial photographs of patients who had a previous molecularly confirmed diagnosis of PACS1 Syndrome. This analysis trained Face2Gene’s deep learning system to recognize PACS1-related features. The system achieved a performance of 96 percent, measured by area under the curve (AUC) of the receiver operating characteristic (ROC) curve. The PACS1 facial analysis algorithm can now be used by clinicians globally through Face2Gene, to help other patients and their families, fostering early detection and much-needed treatments.

“We are proud to work with Cincinnati Children’s to advance research into rare diseases,” said Dekel Gelbman, CEO of FDNA. “Implementing Face2Gene is just one more example of how Cincinnati Children’s uses the most advanced technologies available to help the patients they serve.”

About Face2Gene and FDNA

Face2Gene is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA, developer of Face2Gene, uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients. For more information, please visit the FDNA website.